← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 17-42191033-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=42191033&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 42191033,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032484.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHDC",
"gene_hgnc_id": 24438,
"hgvs_c": "c.1067G>A",
"hgvs_p": "p.Arg356His",
"transcript": "NM_032484.5",
"protein_id": "NP_115873.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 530,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000587427.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032484.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHDC",
"gene_hgnc_id": 24438,
"hgvs_c": "c.1067G>A",
"hgvs_p": "p.Arg356His",
"transcript": "ENST00000587427.6",
"protein_id": "ENSP00000467585.1",
"transcript_support_level": 1,
"aa_start": 356,
"aa_end": null,
"aa_length": 530,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032484.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587427.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHDC",
"gene_hgnc_id": 24438,
"hgvs_c": "c.1067G>A",
"hgvs_p": "p.Arg356His",
"transcript": "ENST00000301671.12",
"protein_id": "ENSP00000301671.7",
"transcript_support_level": 2,
"aa_start": 356,
"aa_end": null,
"aa_length": 530,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301671.12"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHDC",
"gene_hgnc_id": 24438,
"hgvs_c": "c.1067G>A",
"hgvs_p": "p.Arg356His",
"transcript": "ENST00000853517.1",
"protein_id": "ENSP00000523576.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 530,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853517.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHDC",
"gene_hgnc_id": 24438,
"hgvs_c": "c.950G>A",
"hgvs_p": "p.Arg317His",
"transcript": "ENST00000965653.1",
"protein_id": "ENSP00000635712.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 491,
"cds_start": 950,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965653.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHDC",
"gene_hgnc_id": 24438,
"hgvs_c": "c.1067G>A",
"hgvs_p": "p.Arg356His",
"transcript": "ENST00000593209.5",
"protein_id": "ENSP00000468790.1",
"transcript_support_level": 5,
"aa_start": 356,
"aa_end": null,
"aa_length": 479,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593209.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHDC",
"gene_hgnc_id": 24438,
"hgvs_c": "c.1067G>A",
"hgvs_p": "p.Arg356His",
"transcript": "NM_001142623.2",
"protein_id": "NP_001136095.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 474,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142623.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHDC",
"gene_hgnc_id": 24438,
"hgvs_c": "c.1067G>A",
"hgvs_p": "p.Arg356His",
"transcript": "ENST00000414034.7",
"protein_id": "ENSP00000399952.2",
"transcript_support_level": 2,
"aa_start": 356,
"aa_end": null,
"aa_length": 474,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414034.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHDC",
"gene_hgnc_id": 24438,
"hgvs_c": "c.443G>A",
"hgvs_p": "p.Arg148His",
"transcript": "ENST00000853516.1",
"protein_id": "ENSP00000523575.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 322,
"cds_start": 443,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853516.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHDC",
"gene_hgnc_id": 24438,
"hgvs_c": "c.443G>A",
"hgvs_p": "p.Arg148His",
"transcript": "ENST00000965654.1",
"protein_id": "ENSP00000635713.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 322,
"cds_start": 443,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965654.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHDC",
"gene_hgnc_id": 24438,
"hgvs_c": "n.38G>A",
"hgvs_p": null,
"transcript": "ENST00000585735.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000585735.1"
}
],
"gene_symbol": "GHDC",
"gene_hgnc_id": 24438,
"dbsnp": "rs746387604",
"frequency_reference_population": 0.00003419522,
"hom_count_reference_population": 0,
"allele_count_reference_population": 54,
"gnomad_exomes_af": 0.0000336364,
"gnomad_genomes_af": 0.0000394368,
"gnomad_exomes_ac": 48,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04663112759590149,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.011,
"revel_prediction": "Benign",
"alphamissense_score": 0.0634,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.715,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_032484.5",
"gene_symbol": "GHDC",
"hgnc_id": 24438,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1067G>A",
"hgvs_p": "p.Arg356His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}